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Journal Abstract Search

432 related items for PubMed ID: 17264033

  • 1. [Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects].
    Bouzidi H, Khedhiri S, Laradi S, Ferchichi S, Daudon M, Miled A.
    Ann Biol Clin (Paris); 2007; 65(1):5-11. PubMed ID: 17264033
    [Abstract] [Full Text] [Related]

  • 2. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
    Tomatsu S, Montaño AM, Nishioka T, Gutierrez MA, Peña OM, Tranda Firescu GG, Lopez P, Yamaguchi S, Noguchi A, Orii T.
    Hum Mutat; 2005 Dec; 26(6):500-12. PubMed ID: 16287098
    [Abstract] [Full Text] [Related]

  • 3. Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.
    Tomatsu S, Filocamo M, Orii KO, Sly WS, Gutierrez MA, Nishioka T, Serrato OP, Di Natale P, Montaño AM, Yamaguchi S, Kondo N, Orii T, Noguchi A.
    Hum Mutat; 2004 Aug; 24(2):187-8. PubMed ID: 15241807
    [Abstract] [Full Text] [Related]

  • 4. Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene.
    Terzioglu M, Tokatli A, Coskun T, Emre S.
    Hum Mutat; 2002 Dec; 20(6):477-8. PubMed ID: 12442278
    [Abstract] [Full Text] [Related]

  • 5. Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
    Dũng VC, Tomatsu S, Montaño AM, Gottesman G, Bober MB, Mackenzie W, Maeda M, Mitchell GA, Suzuki Y, Orii T.
    Mol Genet Metab; 2013 Dec; 110(1-2):129-38. PubMed ID: 23876334
    [Abstract] [Full Text] [Related]

  • 6. Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
    Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S.
    Mol Genet Metab; 2018 Sep; 125(1-2):18-37. PubMed ID: 29779902
    [Abstract] [Full Text] [Related]

  • 7. Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.
    Tomatsu S, Gutierrez M, Nishioka T, Yamada M, Yamada M, Tosaka Y, Grubb JH, Montaño AM, Vieira MB, Trandafirescu GG, Peña OM, Yamaguchi S, Orii KO, Orii T, Noguchi A, Laybauer L.
    Hum Mol Genet; 2005 Nov 15; 14(22):3321-35. PubMed ID: 16219627
    [Abstract] [Full Text] [Related]

  • 8. Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
    Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ.
    Mol Genet Metab; 2006 Mar 15; 87(3):213-8. PubMed ID: 16378744
    [Abstract] [Full Text] [Related]

  • 9. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.
    Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S.
    Mol Genet Metab; 2013 Mar 15; 110(1-2):54-64. PubMed ID: 23665161
    [Abstract] [Full Text] [Related]

  • 10. Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1.
    Alméciga-Díaz CJ, Montaño AM, Tomatsu S, Barrera LA.
    FEBS J; 2010 Sep 15; 277(17):3608-19. PubMed ID: 20716181
    [Abstract] [Full Text] [Related]

  • 11. Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.
    Tomatsu S, Orii KO, Vogler C, Nakayama J, Levy B, Grubb JH, Gutierrez MA, Shim S, Yamaguchi S, Nishioka T, Montano AM, Noguchi A, Orii T, Kondo N, Sly WS.
    Hum Mol Genet; 2003 Dec 15; 12(24):3349-58. PubMed ID: 14583446
    [Abstract] [Full Text] [Related]

  • 12. Enzyme replacement therapy in a murine model of Morquio A syndrome.
    Tomatsu S, Montaño AM, Ohashi A, Gutierrez MA, Oikawa H, Oguma T, Dung VC, Nishioka T, Orii T, Sly WS.
    Hum Mol Genet; 2008 Mar 15; 17(6):815-24. PubMed ID: 18056156
    [Abstract] [Full Text] [Related]

  • 13. Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.
    Tomatsu S, Vogler C, Montaño AM, Gutierrez M, Oikawa H, Dung VC, Orii T, Noguchi A, Sly WS.
    Mol Genet Metab; 2007 Jul 15; 91(3):251-8. PubMed ID: 17498992
    [Abstract] [Full Text] [Related]

  • 14. [Morquio A disease: clinical and molecular study of Tunisian patients].
    Khedhiri S, Chkioua L, Ferchichi S, Miled A, Laradi S.
    Ann Biol Clin (Paris); 2011 Jul 15; 69(4):425-9. PubMed ID: 21896407
    [Abstract] [Full Text] [Related]

  • 15. Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.
    Tomatsu S, Okamura K, Taketani T, Orii KO, Nishioka T, Gutierrez MA, Velez-Castrillon S, Fachel AA, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Noguchi A.
    Pediatr Res; 2004 Apr 15; 55(4):592-7. PubMed ID: 14711889
    [Abstract] [Full Text] [Related]

  • 16. Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
    Cole DE, Fukuda S, Gordon BA, Rip JW, LeCouteur AN, Rupar CA, Tomatsu S, Ogawa T, Sukegawa K, Orii T.
    Am J Med Genet; 1996 Jun 28; 63(4):558-65. PubMed ID: 8826435
    [Abstract] [Full Text] [Related]

  • 17. Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
    Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N.
    Mol Genet Metab; 2014 Jun 28; 112(2):160-70. PubMed ID: 24726177
    [Abstract] [Full Text] [Related]

  • 18. [Construction of an adenoassociated, viral derived, expression vector to correct the genetic defect in Morquio A disease].
    Gutiérrez MA, García-Vallejo F, Tomatsu S, Cerón F, Alméciga-Díaz CJ, Domínguez MC, Barrera LA.
    Biomedica; 2008 Sep 28; 28(3):448-59. PubMed ID: 19034368
    [Abstract] [Full Text] [Related]

  • 19. Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia.
    Khedhiri S, Chkioua L, Bouzidi H, Dandana A, Ben Turkia H, Miled A, Laradi S.
    Pathol Biol (Paris); 2009 Jul 28; 57(5):392-7. PubMed ID: 18584975
    [Abstract] [Full Text] [Related]

  • 20. N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples.
    Parkinson-Lawrence EJ, Muller VJ, Hopwood JJ, Brooks DA.
    Clin Chim Acta; 2007 Feb 28; 377(1-2):88-91. PubMed ID: 17027703
    [Abstract] [Full Text] [Related]

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